Hirschsprung disease, susceptibility to, 1


biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

hereditary progressive mucinous histiocytosis


TNF receptor 1-associated periodic fever syndrome


spondyloepiphyseal dysplasia with congenital joint dislocations


cholesterol-ester transfer protein deficiency


orthostatic hypotensive disorder, Streeten type


hypercholesterolemia, autosomal dominant, type B


hyperlipidemia, familial combined, LPL related


hyperlipoproteinemia, type II, and deafness


hyperpigmentation of Fuldauer and Kuijpers


hyperpigmentation with or without hypopigmentation, familial progressive


hypotaurinemic retinal degeneration and cardiomyopathy


hyperthermia, cutaneous, with headaches and nausea


malignant hyperthermia, susceptibility to, 1


selective pituitary resistance to thyroid hormone


hypogonadotropic hypogonadism 7 with or without anosmia


mullerian duct anomalies-limb anomalies syndrome


ichthyosis, lamellar, autosomal dominant


solitary median maxillary central incisor syndrome


indifference to pain, congenital, autosomal dominant


cholestasis, intrahepatic, of pregnancy, 1


internal carotid artery, spontaneous dissection of


hypogonadotropic hypogonadism 2 with or without anosmia


palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome


palmoplantar keratoderma-esophageal carcinoma syndrome


keratosis palmaris et plantaris-clinodactyly syndrome


palmoplantar keratoderma, punctate type 1A


palmoplantar keratoderma i, striate, focal, or diffuse


focal palmoplantar and gingival keratoderma


familial congenital nasolacrimal duct obstruction


periodic fever, immunodeficiency, and thrombocytopenia syndrome


Noonan syndrome with multiple lentigines


leukocyte nuclear appendages, hereditary prevalence of


familial partial lipodystrophy, Dunnigan type


lymphedema-cerebral arteriovenous anomaly syndrome


microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability


Bernard-Soulier syndrome, type A2, autosomal dominant


benign concentric annular macular dystrophy


macular dystrophy, fenestrated sheen type


malignant hyperthermia, susceptibility to, 2


malignant hyperthermia, susceptibility to, 3


malocclusion due to protuberant upper front teeth


mannose 6-phosphate receptor recognition defect, Lebanese type


melanoma, malignant familial intraocular


mental and growth retardation with amblyopia


intellectual disability, autosomal dominant 1


metaphyseal chondrodysplasia, Jansen type


metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome


multiple benign circumferential skin creases on limbs


microcornea-glaucoma-absent frontal sinuses syndrome


microgastria-limb reduction defect syndrome


micromelic bone dysplasia with cloverleaf skull


microphthalmia, isolated, with cataract 1


microphthalmia, isolated, with corectopia


migraine with or without aura, susceptibility to, 1


autosomal dominant progressive external ophthalmoplegia


multiple exostoses with spastic tetraparesis


muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome


neuronopathy, distal hereditary motor, type 7A


neuronopathy, distal hereditary motor, type 2A


autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures


facioscapulohumeral muscular dystrophy 1


facioscapulohumeral muscular dystrophy 2


muscular dystrophy, pseudohypertrophic, with Internalized capillaries


spinal muscular atrophy-progressive myoclonic epilepsy syndrome


autosomal dominant centronuclear myopathy


myopathy with storage of glycoproteins and Glycosaminoglycans


nasal hyperpigmentation, familial transverse


necrotizing encephalomyelopathy, subacute, of Leigh, adult


congenital myopathy 2a, typical, autosomal dominant


autosomal dominant progressive nephropathy with hypertension


familial juvenile hyperuricemic nephropathy type 1


ceroid lipofuscinosis, neuronal, 4 (Kufs type)


neuropathy, congenital, with arthrogryposis multiplex


neuropathy, hereditary sensory and autonomic, type 1A


hereditary neuropathy with liability to pressure palsies


congenital stationary night blindness autosomal dominant 2


sick sinus syndrome 2, autosomal dominant


noduli Cutanei, multiple, with urinary tract abnormalities


nystagmus 2, congenital, autosomal dominant


odontomatosis-aortae esophagus stenosis syndrome


ophthalmoplegia, familial total, with iris transillumination


ophthalmoplegia-intellectual disability-lingua scrotalis syndrome


optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant


optic atrophy 13 with retinal and foveal abnormalities


multicentric carpo-tarsal osteolysis with or without nephropathy


osteosclerosis with ichthyosis and fractures


ovalocytosis, hereditary hemolytic, with defective erythropoiesis


osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension


hypertrophic osteoarthropathy, primary, autosomal dominant


inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1


papillomatosis, confluent and reticulated


parietal foramina with cleidocranial dysplasia


benign paroxysmal tonic upgaze of childhood with ataxia


pseudoleprechaunism syndrome, Patterson type


adult-onset autosomal dominant demyelinating leukodystrophy


pelvic lipomatosis with crossed renal ectopia


pheochromocytoma-islet cell tumor syndrome


piebald trait-neurologic defects syndrome


pigmented paravenous retinochoroidal atrophy


isolated growth hormone deficiency type II


hereditary sclerosing poikiloderma, Weary type


polyposis, intestinal, scattered and discrete


polyposis, intestinal, with multiple exostoses


polyposis of gastric fundus without polyposis coli


polyps, multiple and recurrent inflammatory fibroid, gastrointestinal


brain small vessel disease 1 with or without ocular anomalies


porokeratosis plantaris palmaris et disseminata


punctate palmoplantar keratoderma type 2


porokeratosis 3, disseminated superficial actinic type


progeria-short stature-pigmented nevi syndrome


pelvic organ prolapse, susceptibility to


thrombophilia due to protein C deficiency, autosomal dominant


autosomal dominant pseudohypoaldosteronism type 1


short stature-craniofacial anomalies-genital hypoplasia syndrome


contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A


pulmonary atresia with ventricular septal defect


pulmonary edema of mountaineers, susceptibility to


pruritic urticarial papules and plaques of pregnancy


pyloric stenosis, infantile hypertrophic, 1


radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome


radial ray hypoplasia-choanal atresia syndrome


radius, aplasia of, with cleft lip/palate


red cell phospholipid defect with hemolysis


autosomal dominant distal renal tubular acidosis


dominant pericentral pigmentary retinopathy


Rubinstein-Taybi syndrome due to CREBBP mutations


scalp defects-postaxial polydactyly syndrome


neurogenic scapuloperoneal syndrome, Kaeser type


scapuloperoneal spinal muscular atrophy, autosomal dominant


congenital myopathy 7A, myosin storage, autosomal dominant


scoliosis, isolated, susceptibility to, 1


flat face-microstomia-ear anomaly syndrome


omphalocele syndrome, Shprintzen-Goldberg type


skeletal dysplasia with delayed epiphyseal and carpal bone ossification


spastic paraplegia with associated extrapyramidal signs


spastic paraplegia-precocious puberty syndrome


spastic paraplegia, optic atrophy, and dementia


neuronopathy, distal hereditary motor, autosomal dominant 1


spinal muscular atrophy, facioscapulohumeral type


adult-onset proximal spinal muscular atrophy, autosomal dominant


spinocerebellar ataxia with rigidity and peripheral neuropathy


spinocerebellar atrophy with pupillary paralysis


splenogonadal fusion-limb defects-micrognathia syndrome


split-hand and split-foot with hypodontia


spondyloarthropathy, susceptibility to, 2


spondyloepimetaphyseal dysplasia, Maroteaux type


spondyloepiphyseal dysplasia tarda, autosomal dominant


spondyloepimetaphyseal dysplasia, Strudwick type


spondylometaphyseal dysplasia, Kozlowski type


spondylometaphyseal dysplasia, Schmidt type


spondylometaphyseal dysplasia, 'corner fracture' type


stapes ankylosis with broad thumbs and toes


steatocystoma multiplex-natal teeth syndrome


holoprosencephaly-radial heart renal anomalies syndrome


otospondylomegaepiphyseal dysplasia, autosomal dominant


short stature-wormian bones-dextrocardia syndrome


symphalangism with multiple anomalies of hands and feet


brachydactyly-elbow wrist dysplasia syndrome


synovial chondromatosis, familial, with dwarfism


telangiectasia, hereditary hemorrhagic, type 1


thrombophilia due to activated protein C resistance


thumb deformity-alopecia-pigmentation anomaly syndrome


thumb stiffness-brachydactyly-intellectual disability syndrome


thyroid hormone plasma membrane transport defect


thyroid hormone resistance, generalized, autosomal dominant


thyrotoxic periodic paralysis, susceptibility to, 1


tibia, hypoplasia or aplasia of, with polydactyly


toes, relative length of first and second


malposition of teeth with or without hypodontia/oligodontia


tremor of intention, ataxia, and lipofuscinosis


triphalangeal thumb with double phalanges


mesomelic dwarfism, Reinhardt-Pfeiffer type


double uterus-hemivagina-renal agenesis syndrome


retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations


ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome


posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome


vertebral hypoplasia with lumbar kyphosis


autosomal dominant hypophosphatemic rickets


dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema


acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome


short-limb skeletal dysplasia with severe combined immunodeficiency


acromesomelic dysplasia 2C, Hunter-Thompson type


congenital isolated adrenocorticotropic hormone deficiency


medium chain acyl-CoA dehydrogenase deficiency


short chain acyl-CoA dehydrogenase deficiency


very long chain acyl-CoA dehydrogenase deficiency


adducted thumbs-arthrogryposis syndrome, Christian type


congenital lipoid adrenal hyperplasia due to STAR deficency


Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis


congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency


congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency


congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency


familial adrenal hypoplasia with absent pituitary luteinizing hormone


adrenocortical unresponsiveness to ACTH with postreceptor defect


autosomal dominant severe congenital neutropenia


alar cartilages hypoplasia-coloboma-telecanthus syndrome


corticosterone methyloxidase type 1 deficiency


alopecia - contractures - dwarfism - intellectual disability syndrome


alopecia - intellectual disability syndrome


ceroid lipofuscinosis, neuronal, 6B (Kufs type)


amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis


Amobarbital, deficient N-hydroxylation of


amyotrophic lateral sclerosis type 2, juvenile


juvenile amyotrophic lateral sclerosis with dementia


amyotrophic lateral sclerosis with polyglucosan bodies


microcytic anemia with liver iron overload


anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane


anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism


angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert


aniridia-cerebellar ataxia-intellectual disability syndrome


aniridia-renal agenesis-psychomotor retardation syndrome


antithrombin, familial hemorrhagic diathesis due to


aplasia cutis congenita-intestinal lymphangiectasia syndrome


arterial calcification, generalized, of infancy, 1


arthrogryposis, renal dysfunction, and cholestasis 1


arthrogryposis multiplex congenita 2, neurogenic type


arthrogryposis multiplex congenita-whistling face syndrome


arthrogryposis-hyperkeratosis syndrome, lethal form


progressive pseudorheumatoid arthropathy of childhood


asthma, nasal polyps, and aspirin intolerance


ataxia with myoclonic epilepsy and presenile dementia


ataxia - deafness - intellectual disability syndrome


ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia


berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification


beta-aminoisobutyric acid, urinary excretion of


3-methylcrotonyl-CoA carboxylase 1 deficiency


3-methylcrotonyl-CoA carboxylase 2 deficiency


Bietti crystalline corneoretinal dystrophy


microcephalic osteodysplastic primordial dwarfism type I


microcephalic osteodysplastic primordial dwarfism type II


brachydactyly, type A2, with microcephaly


bronchiectasis with or without elevated sweat chloride 1


progressive familial intrahepatic cholestasis type 1


hereditary arterial and articular multiple calcification syndrome


camptodactyly syndrome, Guadalajara type 1


camptodactyly syndrome, Guadalajara type 2


predisposition to invasive fungal disease due to CARD9 deficiency


PMM2-congenital disorder of glycosylation


MGAT2-congenital disorder of glycosylation


congenital disorder of glycosylation, type i/IIx


cardiac septal defects with coarctation of the aorta


cardioauditory syndrome of Sanchez Cascos


cardiomyopathy associated with myopathy and sudden death


systemic primary carnitine deficiency disease


autosomal recessive palmoplantar keratoderma and congenital alopecia


colobomatous optic disc-macular atrophy-chorioretinopathy syndrome


cerebellar ataxia-ectodermal dysplasia syndrome


cerebellar ataxia and neurosensory deafness


cerebellar ataxia, benign, with thermoanalgesia


hepatic fibrosis-renal cysts-intellectual disability syndrome


autosomal recessive spinocerebellar ataxia 2


cerebral sclerosis similar to Pelizaeus-Merzbacher disease


peroxisome biogenesis disorder 1A (Zellweger)


peroxisome biogenesis disorder 2A (Zellweger)


Klippel-Feil syndrome 2, autosomal recessive


Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome


congenital secretory chloride diarrhea 1


rhizomelic chondrodysplasia punctata type 1


chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome


infantile choroidocerebral calcification syndrome


ciliary discoordination due to random ciliary orientation


ciliary dyskinesia with transposition of ciliary microtubules


cleft palate-stapes fixation-oligodontia syndrome


familial reactive perforating collagenosis


macular coloboma-cleft palate-hallux valgus syndrome


heart defect - tongue hamartoma - polysyndactyly syndrome


multiple pterygium-malignant hyperthermia syndrome


convulsive disorder, familial, with prenatal or early onset


corneal dystrophy-perceptive deafness syndrome


congenital hereditary endothelial dystrophy of cornea


cortical blindness-intellectual disability-polydactyly syndrome


craniometaphyseal dysplasia, autosomal recessive


Cushing syndrome due to macronodular adrenal hyperplasia


cutaneous photosensitivity-lethal colitis syndrome


cutis laxa, autosomal recessive, type 1A


autosomal recessive cutis laxa type 2, classic type


cutis marmorata telangiectatica congenita


cutis verticis gyrata and intellectual disability


cystic fibrosis-gastritis-megaloblastic anemia syndrome


congenital lactic acidosis, Saguenay-Lac-Saint-Jean type


facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome


Dandy-Walker malformation-postaxial polydactyly syndrome


autosomal recessive nonsyndromic hearing loss 1A


split hand-foot malformation 1 with sensorineural hearing loss


deafness, congenital, with total albinism


high myopia-sensorineural deafness syndrome


conductive deafness-malformed external ear syndrome


conductive deafness-ptosis-skeletal anomalies syndrome


deafness-small bowel diverticulosis-neuropathy syndrome


deafness, neural, with atypical atopic dermatitis


hearing loss, sensorineural, autosomal-mitochondrial type


non-acquired combined pituitary hormone deficiency with spine abnormalities


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly


persistent hyperplastic primary vitreous, autosomal recessive


nephrogenic diabetes insipidus-intracranial calcification syndrome


rhizomelic chondrodysplasia punctata type 2


hemolytic anemia due to diphosphoglycerate mutase deficiency


dwarfism, low-birth-weight type, with unresponsiveness to growth hormone


dwarfism, proportionate, with hip dislocation


cerebellar ataxia, intellectual disability, and dysequilibrium


congenital dyserythropoietic anemia type 2


anemia, congenital dyserythropoietic, type 1a


dyssegmental dysplasia, Rolland-Desbuquois type


Silverman-Handmaker type dyssegmental dysplasia


ectodermal dysplasia-sensorineural deafness syndrome


ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive


ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome


hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome


cleft lip/palate-ectodermal dysplasia syndrome


ectopia lentis 2, isolated, autosomal recessive


hypothyroidism, congenital, nongoitrous, 5


Ehlers-Danlos syndrome, fibronectinemic type


Ehlers-Danlos syndrome, cardiac valvular type


Ehlers-Danlos syndrome, dermatosparaxis type


endocardial fibroelastosis and coarctation of abdominal aorta


congenital enteropathy due to enteropeptidase deficiency


epidermolysis bullosa dystrophica Neurotrophica


recessive dystrophic epidermolysis bullosa


junctional epidermolysis bullosa, non-Herlitz type


epidermolysis bullosa simplex 5B, with muscular dystrophy


junctional epidermolysis bullosa with pyloric atresia


epidermolysis bullosa with diaphragmatic hernia


celiac disease-epilepsy-cerebral calcification syndrome


epiphyseal dysplasia of femoral head, myopia, and deafness


transient erythroblastopenia of childhood


factor V and factor VIII, combined deficiency of, type 1


factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor


autosomal recessive faciodigitogenital syndrome


glycogen storage disease due to GLUT2 deficiency


hypogonadotropic hypogonadism 23 with or without anosmia


gingival fibromatosis-facial dysmorphism syndrome


Fibulo-ulnar hypoplasia-renal anomalies syndrome


hypogonadotropic hypogonadism 24 without anosmia


Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome


multiple acyl-CoA dehydrogenase deficiency


glutathione synthetase deficiency without 5-oxoprolinuria


glycogen storage disease due to glucose-6-phosphatase deficiency type IA


glycogen storage disease due to glycogen branching enzyme deficiency


XY type gonadal dysgenesis-associated anomalies syndrome


anti-glomerular basement membrane disease


granulocytopenia with immunoglobulin abnormality


combined immunodeficiency with skin granulomas


granulomatous disease, chronic, autosomal recessive, cytochrome b-negative


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2


lipodystrophy due to peptidic growth factors deficiency


hallux varus-preaxial polysyndactyly syndrome


hemolytic anemia with thermal sensitivity of red cells


hemolytic uremic syndrome, atypical, susceptibility to, 1


hemosiderosis, pulmonary, with deficiency of gamma-a globulin


Hennekam lymphangiectasia-lymphedema syndrome 1


hepatic veno-occlusive disease-immunodeficiency syndrome


non-spherocytic hemolytic anemia due to hexokinase deficiency


Hirschsprung disease-hearing loss-polydactyly syndrome


Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect


Hirschsprung disease-nail hypoplasia-dysmorphism syndrome


homocystinuria due to methylene tetrahydrofolate reductase deficiency


autosomal recessive humeroradial synostosis


multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome


hydrocephalus, nonsyndromic, autosomal recessive 1


autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius


growth delay-hydrocephaly-lung hypoplasia syndrome


hydrocephaly-tall stature-joint laxity syndrome


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1


encephalopathy due to hydroxykynureninuria


seizures-intellectual disability due to hydroxylysinuria syndrome


carbamoyl phosphate synthetase I deficiency disease


hyperammonemia due to N-acetylglutamate synthase deficiency


transient familial neonatal hyperbilirubinemia


hyperlysinemia due to defect in lysine transport into mitochondria


hyperparathyroidism, neonatal self-limited primary, with hypercalciuria


neonatal severe primary hyperparathyroidism


hyperphosphatasia with intellectual disability syndrome 1


hypertelorism, microtia, facial clefting syndrome


cervical hypertrichosis-peripheral neuropathy syndrome


hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase


autoimmune polyendocrine syndrome type 1


glycogen storage disorder due to hepatic glycogen synthase deficiency


hypoinsulinemic hypoglycemia and body hemihypertrophy


hypogonadism with low-grade mental deficiency and microcephaly


primary hypergonadotropic hypogonadism-partial alopecia syndrome


hypohidrosis with abnormal palmar dermal Ridges


hypokalemic alkalosis, familial, with specific renal tubulopathy


hypophosphatemic rickets, autosomal recessive, 1


hereditary hypophosphatemic rickets with hypercalciuria


hypospadias-intellectual disability, Goldblatt type syndrome


congenital hypothalamic hamartoma syndrome


hypouricemia, hypercalcinuria, and decreased bone density


autosomal recessive congenital ichthyosis 2


ichthyosiform erythroderma, corneal involvement, and hearing loss


autosomal recessive congenital ichthyosis 4B


ichthyosis-intellectual disability-dwarfism-renal impairment syndrome


ichthyosis, split hairs, and amino aciduria


ciliary dyskinesia with defective radial spokes


immunodeficiency-centromeric instability-facial anomalies syndrome 1


channelopathy-associated congenital insensitivity to pain, autosomal recessive


inosine phosphorylase deficiency, immune defect due to


internal carotid arteries, hypoplasia of


immunodeficiency with defective T-cell response to interleukin 1


natal teeth-intestinal pseudoobstruction-patent ductus syndrome


benign recurrent intrahepatic cholestasis type 1


intrinsic factor and r binder, combined congenital deficiency of


combined immunodeficiency due to DOCK8 deficiency


hypogonadotropic hypogonadism 3 with or without anosmia


oculocerebrofacial syndrome, Kaufman type


autosomal recessive Kenny-Caffey syndrome


succinyl-CoA:3-ketoacid CoA transferase deficiency


metabolic myopathy due to lactate transporter defect


pyruvate dehydrogenase E3-binding protein deficiency


absence deformity of leg-cataract syndrome


leukemia, acute myelocytic, with polyposis coli and colon cancer


fibular aplasia, tibial campomelia, and oligosyndactyly syndrome


chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation


chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation


lymphoblastic leukemia, acute, with lymphomatous features


chronic mucocutaneous candidiasis due to lymphokine deficiency


lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis


macrocephaly/megalencephaly syndrome, autosomal recessive


renal hypomagnesemia 5 with ocular involvement


severe early-childhood-onset retinal dystrophy


mandibuloacral dysplasia with type A lipodystrophy


marfanoid habitus-autosomal recessive intellectual disability syndrome


autosomal recessive familial Mediterranean fever


thiamine-responsive megaloblastic anemia syndrome


intellectual disability, autosomal recessive 1


intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome


blepharophimosis - intellectual disability syndrome, Ohdo type


intellectual disability, Buenos-Aires type


encephalopathy due to beta-mercaptolactate-cysteine disulfiduria


mesoaxial hexadactyly and cardiac malformation


mesomelic dwarfism-cleft palate-camptodactyly syndrome


metachromatic leukodystrophy due to saposin B deficiency


metachromatic leukodystrophy, juvenile form


spondylometaphyseal dysplasia, Sedaghatian type


metaphyseal chondrodysplasia, Spahr type


metaphyseal chondrodysplasia-retinitis pigmentosa syndrome


metaphyseal dysostosis-intellectual disability-conductive deafness syndrome


metaphyseal dysplasia without hypotrichosis


metaphyseal modeling abnormality, skin lesions, and spastic paraplegia


methemoglobinemia due to deficiency of methemoglobin reductase


methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency


methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency


microcephalic primordial dwarfism, Toriello type


microcephaly 1, primary, autosomal recessive


microcephaly-cervical spine fusion anomalies syndrome


diencephalic-mesencephalic junction dysplasia syndrome 1


microphthalmia, isolated, with coloboma 4


microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies


microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma


microtia with meatal atresia and conductive deafness


mitochondrial DNA depletion syndrome 3 (hepatocerebral type)


mitochondrial myopathy with a defect in mitochondrial-protein transport


sulfite oxidase deficiency due to molybdenum cofactor deficiency type A


sulfite oxidase deficiency due to molybdenum cofactor deficiency type B


chronic mucocutaneous candidiasis due to monocyte chemotactic disorder


monosomy 7 myelodysplasia and leukemia syndrome 1


peripheral motor neuropathy-dysautonomia syndrome


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3


lethal congenital contracture syndrome 1


intellectual disability-myopathy-short stature-endocrine defect syndrome


muscular dystrophy, adult-onset, with leukoencephalopathy


autosomal recessive limb-girdle muscular dystrophy type 2A


autosomal recessive limb-girdle muscular dystrophy type 2B


autosomal recessive limb-girdle muscular dystrophy type 2C


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4


congenital muscular dystrophy-infantile cataract-hypogonadism syndrome


Ullrich congenital muscular dystrophy 1A


muscular dystrophy, congenital, with rapid progression


autosomal recessive limb-girdle muscular dystrophy type 2H


myasthenia, congenital, refractory to acetylcholinesterase inhibitors


myeloproliferative disease, autosomal recessive


myopathy, granulovacuolar lobular, with electrical myotonia


carnitine palmitoyl transferase II deficiency, myopathic form


carnitine palmitoyl transferase 1A deficiency


hereditary myopathy with lactic acidosis due to ISCU deficiency


myopathy, myosin storage, autosomal recessive


congenital fiber-type disproportion myopathy


congenital multicore myopathy with external ophthalmoplegia


nephropathy - deafness - hyperparathyroidism syndrome


nephrosis-deafness-urinary tract-digital malformations syndrome


congenital nephrotic syndrome, Finnish type


hyperinsulinemic hypoglycemia, familial, 1


mitochondrial DNA depletion syndrome 6 (hepatocerebral type)


hereditary sensory and autonomic neuropathy with spastic paraplegia


neutropenia, lethal congenital, with eosinophilia


congenital stationary night blindness 1B


nystagmus, congenital, autosomal recessive


oculocerebral hypopigmentation syndrome of Preus


oculodentodigital dysplasia, autosomal recessive


lethal omphalocele-cleft palate syndrome


ophthalmoplegia totalis with ptosis and miosis


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1


ophthalmoplegic neuromuscular disorder with abnormal mitochondria


nonarteritic anterior ischemic optic neuropathy, susceptibility to


osteodysplasty, precocious, of Danks, Mayne, and Kozlowski


congenital osteogenesis imperfecta-microcephaly-cataracts syndrome


multicentric osteolysis, nodulosis, and arthropathy


autosomal recessive distal osteolysis syndrome


chronic recurrent multifocal osteomyelitis


osteopenia-intellectual disability-sparse hair syndrome


progressive supranuclear palsy-parkinsonism syndrome


Pelger-Huet-like anomaly and episodic fever with abdominal pain


hyperimmunoglobulinemia D with periodic fever


peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain


phosphoenolpyruvate carboxykinase deficiency, mitochondrial


phosphoenolpyruvate carboxykinase deficiency, cytosolic


lethal congenital glycogen storage disease of heart


pili torti-developmental delay-neurological abnormalities syndrome


pituitary hormone deficiency, combined, 2


short stature due to growth hormone qualitative anomaly


short stature-pituitary and cerebellar defects-small sella turcica syndrome


pituitary dwarfism with large sella turcica


autosomal recessive polycystic kidney disease


short-rib thoracic dysplasia 6 with or without polydactyly


postaxial polydactyly-dental and vertebral anomalies syndrome


pterin-4 alpha-carbinolamine dehydratase 1 deficiency


prolactin deficiency with obesity and enlarged testes


46,XX disorder of sex development-skeletal anomalies syndrome


46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency


pseudohypoaldosteronism, type IB1, autosomal recessive


fundus dystrophy, pseudoinflammatory, recessive form


autosomal recessive inherited pseudoxanthoma elasticum


autosomal recessive multiple pterygium syndrome


surfactant metabolism dysfunction, pulmonary, 1


pulmonary atresia-intact ventricular septum syndrome


alveolar capillary dysplasia with misalignment of pulmonary veins


pulmonary hypertension, primary, autosomal recessive


hemolytic anemia due to pyrimidine 5' nucleotidase deficiency


glutathione synthetase deficiency with 5-oxoprolinuria


radioulnar synostosis-developmental delay-hypotonia syndrome


short-rib thoracic dysplasia 9 with or without polydactyly


renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss


renal tubular dysgenesis of genetic origin


respiratory distress syndrome in premature infants


familial hemophagocytic lymphohistiocytosis type 1


reticular dystrophy of the retinal pigment epithelium


retinal telangiectasia and hypogammaglobulinemia


retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome


autosomal recessive pericentral pigmentary retinopathy


myoglobinuria, acute recurrent, autosomal recessive


rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction


craniometadiaphyseal dysplasia, wormian bone type


congenital generalized lipodystrophy type 2


combined immunodeficiency due to ZAP70 deficiency


free sialic acid storage disease, infantile form


sodium-potassium-ATPase activity of red cell


growth delay due to insulin-like growth factor I resistance


spastic diplegia and intellectual disability


spastic paraplegia-glaucoma-intellectual disability syndrome


spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome


spinal muscular atrophy with microcephaly and mental subnormality


scapuloperoneal spinal muscular atrophy, autosomal recessive


mitochondrial DNA depletion syndrome 7 (hepatocerebral type)


autosomal recessive cerebellar ataxia-blindness-deafness syndrome


spastic ataxia-corneal dystrophy syndrome


spondyloepimetaphyseal dysplasia, sponastrime type


spondylocostal dysostosis-anal and genitourinary malformations syndrome


spondyloepiphyseal dysplasia tarda, autosomal recessive


spondyloepiphyseal dysplasia tarda, Kohn type


spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures


spondyloepimetaphyseal dysplasia, Irapa type


spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome


familial infantile bilateral striatal necrosis


succinic semialdehyde dehydrogenase deficiency


non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome


tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities


thanatophoric dysplasia, Glasgow variant


congenital thrombotic thrombocytopenic purpura


upper limb defect-eye and ear abnormalities syndrome


thyroid hormone resistance, generalized, autosomal recessive


isolated thyroid-stimulating hormone deficiency


isolated thyrotropin-releasing hormone deficiency


hypothyroidism due to TSH receptor mutations


trichomegaly-retina pigmentary degeneration-dwarfism syndrome


ulna hypoplasia-intellectual disability syndrome


ulnar agenesis and endocardial fibroelastosis


Mayer-Rokitansky-Kuster-Hauser syndrome type 1


congenital bilateral aplasia of vas deferens from CFTR mutation


autosomal recessive spondylocostal dysostosis


hypercarotenemia and vitamin A deficiency, autosomal recessive


methylmalonic aciduria and homocystinuria type cblF


methylmalonic aciduria and homocystinuria type cblC


methylmalonic aciduria and homocystinuria type cblD


vitamin K-dependent clotting factors, combined deficiency of, type 1


familial isolated deficiency of vitamin E


wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome


intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked


heterotopia, periventricular, X-linked dominant


X-linked intellectual disability-psychosis-macroorchidism syndrome


X-linked intellectual disability-plagiocephaly syndrome


lissencephaly type 1 due to doublecortin gene mutation


congenital stationary night blindness 2A


developmental and epileptic encephalopathy, 9


intellectual disability, X-linked, with panhypopituitarism


migraine, familial typical, susceptibility to, 2


arthrogryposis, congenital, lower limb, X-linked


X-linked lissencephaly with abnormal genitalia


syndromic X-linked intellectual disability 7


X-linked myotubular myopathy-abnormal genitalia syndrome


spondyloepimetaphyseal dysplasia, Bieganski type


syndromic X-linked intellectual disability Shashi type


terminal osseous dysplasia-pigmentary defects syndrome


syndromic X-linked intellectual disability Lubs type


syndromic X-linked intellectual disability Abidi type


syndromic X-linked intellectual disability Siderius type


ectodermal dysplasia and immune deficiency


anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome


hypoxanthine guanine phosphoribosyltransferase partial deficiency


X-linked intellectual disability, Cabezas type


thrombocytopenia, X-linked, with or without dyserythropoietic anemia


osteopathia striata with cranial sclerosis


polymicrogyria, bilateral perisylvian, X-linked


T-B+ severe combined immunodeficiency due to gamma chain deficiency


intellectual disability, X-linked, with or without seizures, ARX-related


syndromic X-linked intellectual disability Hedera type


X-linked intellectual disability, Stocco dos Santos type


X-linked intellectual disability-cubitus valgus-dysmorphism syndrome


corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome


severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome


X-linked intellectual disability-cerebellar hypoplasia syndrome


X-linked distal spinal muscular atrophy type 3


epilepsy, X-linked 1, with variable learning disabilities and behavior disorders


deafness-intellectual disability, Martin-Probst type syndrome


syndromic X-linked intellectual disability Claes-Jensen type


nephrogenic syndrome of inappropriate antidiuresis


hypophosphatemic rickets, X-linked recessive


myopathy, congenital, with fiber-type disproportion, X-linked


developmental and epileptic encephalopathy, 8


X-linked hereditary sensory and autonomic neuropathy with hearing loss


cataract, ataxia, short stature, and intellectual disability


fragile X-associated tremor/ataxia syndrome


X-linked lymphoproliferative disease due to XIAP deficiency


rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked


X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency


ocular albinism with late-onset sensorineural deafness


glycogen storage disease due to phosphoglycerate kinase 1 deficiency


developmental and epileptic encephalopathy, 2


severe neonatal-onset encephalopathy with microcephaly


syndromic X-linked intellectual disability 14


X-linked scapuloperoneal muscular dystrophy


X-linked myopathy with postural muscle atrophy


syndromic X-linked intellectual disability 94


X-linked non progressive cerebellar ataxia


intellectual disability, X-linked syndromic, Turner type


syndactyly-telecanthus-anogenital and renal malformations syndrome


syndromic X-linked intellectual disability Shrimpton type


X-linked intellectual disability-craniofacioskeletal syndrome


myopathy, reducing body, X-linked, early-onset, severe


myopathy, reducing body, X-linked, childhood-onset


deafness, cataract, retinitis pigmentosa, and sperm abnormalities


syndromic X-linked intellectual disability Najm type


surfactant metabolism dysfunction, pulmonary, 4


syndromic X-linked intellectual disability Raymond type


chromosome Xp11.23-p11.22 duplication syndrome


thrombophilia, X-linked, due to factor 9 defect


severe X-linked mitochondrial encephalomyopathy


X-linked dyserythropoetic anemia with abnormal platelets and neutropenia


X-linked cone dysfunction syndrome with myopia


moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome


X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia


syndromic X-linked intellectual disability 17


syndromic X-linked intellectual disability Nascimento type


syndromic X-linked intellectual disability Chudley-Schwartz type


X-linked dominant chondrodysplasia, Chassaing-Lacombe type


X-linked cerebral-cerebellar-coloboma syndrome syndrome


multiple congenital anomalies-hypotonia-seizures syndrome 2


developmental and epileptic encephalopathy, 36


X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome


linear skin defects with multiple congenital anomalies 2


X-linked central congenital hypothyroidism with late-onset testicular enlargement


neurodegeneration with brain iron accumulation 5


blepharophimosis - intellectual disability syndrome, MKB type


SLC35A2-congenital disorder of glycosylation


Charcot-Marie-Tooth disease X-linked dominant 6


anemia, nonspherocytic hemolytic, due to G6PD deficiency


X-linked intellectual disability, Cantagrel type


X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome


SSR4-congenital disorder of glycosylation


X-linked acrogigantism due to Xq26 microduplication


pituitary adenoma, growth hormone-secreting, 2


Diamond-Blackfan anemia 14 with mandibulofacial dysostosis


linear skin defects with multiple congenital anomalies 3


X-linked intellectual disability-short stature-overweight syndrome


intellectual disability, X-linked, syndromic 33


syndromic X-linked intellectual disability 34


intellectual disability, X-linked 99, syndromic, female-restricted


intellectual disability-balding-patella luxation-acromicria syndrome


vas deferens, congenital bilateral aplasia of, X-linked


intellectual disability, X-linked, syndromic, Bain type


combined immunodeficiency due to moesin deficiency


midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis


ciliary dyskinesia, primary, 36, X-linked


X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2


X-linked sideroblastic anemia with ataxia


contractures-ectodermal dysplasia-cleft lip/palate syndrome


infantile-onset X-linked spinal muscular atrophy


Charcot-Marie-Tooth disease X-linked dominant 1


Charcot-Marie-Tooth disease X-linked recessive 2


Charcot-Marie-Tooth disease X-linked recessive 3


Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita


cleft palate with or without ankyloglossia, X-linked


X-linked complicated corpus callosum dysgenesis


syndromic X-linked intellectual disability 5


X-linked mixed hearing loss with perilymphatic gusher


diabetes insipidus, nephrogenic, X-linked


X-linked hypohidrotic ectodermal dysplasia


granulomatous disease, chronic, X-linked


X-linked hydrocephalus with stenosis of the aqueduct of Sylvius


X-linked congenital generalized hypertrichosis


isolated growth hormone deficiency type III


male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome


familial isolated hypoparathyroidism due to agenesis of parathyroid gland


X-linked dominant hypophosphatemic rickets


hypouricemia, familial renal, due to tubular hypersecretion


immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein


developmental and epileptic encephalopathy, 1


jaundice, familial obstructive, of infancy


hypogonadotropic hypogonadism 1 with or without anosmia


Kallmann syndrome with spastic paraplegia


keratosis follicularis spinulosa decalvans, X-linked


keratosis follicularis-dwarfism-cerebral atrophy syndrome


laryngeal abductor paralysis-intellectual disability syndrome


X-linked diffuse leiomyomatosis-Alport syndrome


proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis


X-linked intellectual disability-seizures-psoriasis syndrome


X-linked intellectual disability with marfanoid habitus


methylmalonic acidemia with homocystinuria, type cblX


syndromic X-linked intellectual disability 12


severe X-linked intellectual disability, Gustavson type


intellectual disability-hypotonic facies syndrome, X-linked, 1


syndromic X-linked intellectual disability Snyder type


skeletal dysplasia-intellectual disability syndrome


modifier, X-linked, for Neurofunctional defects


muscular dystrophy, Hemizygous lethal type


X-linked Emery-Dreifuss muscular dystrophy


X-linked myopathy with excessive autophagy


nephrolithiasis, X-linked recessive, with renal failure


Charcot-Marie-Tooth disease X-linked recessive 4


congenital stationary night blindness 1A


Charcot-Marie-Tooth disease X-linked recessive 5


optic atrophy--spastic paraplegia syndrome


early-onset parkinsonism-intellectual disability syndrome


Pierre Robin syndrome-faciodigital anomaly syndrome


X-linked lethal multiple pterygium syndrome


pyruvate dehydrogenase E1-alpha deficiency


absent radius-anogenital anomalies syndrome


radiation sensitivity of natural killer activity


X-linked intellectual disability, Schimke type


spondyloepiphyseal dysplasia tarda, X-linked


spondylometaphyseal dysplasia, Golden type


taurodontism, microdontia, and dens invaginatus


thrombocytopenia with elevated serum IgA and renal disease


trigonocephaly-short stature-developmental delay syndrome


VACTERL association, X-linked, with or without hydrocephalus


striatonigral degeneration, infantile, mitochondrial


mitochondrial non-syndromic sensorineural hearing loss


mitochondrial myopathy with reversible cytochrome C oxidase deficiency


maternally-inherited diabetes and deafness


proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome


pancreatic hypoplasia-diabetes-congenital heart disease syndrome


autosomal recessive nonsyndromic hearing loss 2


familial chronic myelocytic leukemia-like syndrome


vitamin D hydroxylation-deficient rickets, type 1B


pancreatic beta cell agenesis with neonatal diabetes mellitus


spondyloepiphyseal dysplasia tarda with characteristic facies


autosomal dominant nonsyndromic hearing loss 2A


autosomal recessive juvenile Parkinson disease 2


rhizomelic chondrodysplasia punctata type 3


disorder of sex development-intellectual disability syndrome


atrioventricular defect-blepharophimosis-radial and anal defect syndrome


Hirschsprung disease, susceptibility to, 2


Hirschsprung disease, susceptibility to, 5


pterygium colli-intellectual disability-digital anomalies syndrome


neuronopathy, distal hereditary motor, autosomal dominant 8


multiple cutaneous and mucosal venous malformations


chromosome 8Q12.1-q21.2 deletion syndrome


Helicobacter pylori infection, susceptibility to


short tarsus-absence of lower eyelashes syndrome


autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis


autosomal recessive nonsyndromic hearing loss 3


infantile osteopetrosis with neuroaxonal dysplasia


parotid salivary glands, polycystic dysgenetic disease of


recessive aplasia cutis congenita of limbs


telangiectasia, hereditary hemorrhagic, type 2


pectus excavatum-macrocephaly-dysplastic nails syndrome


angiokeratoma corporis diffusum with arteriovenous fistulas


isolated anterior cervical hypertrichosis


lethal hemolytic anemia-genital anomalies syndrome


malignant hyperthermia, susceptibility to, 4


maturity-onset diabetes of the young type 3


autosomal dominant epilepsy with auditory features


autosomal dominant nocturnal frontal lobe epilepsy 1


intrauterine growth retardation with increased mitomycin c sensitivity


spondyloepiphyseal dysplasia, Reardon type


fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement


carnitine palmitoyl transferase II deficiency, severe infantile form


autosomal dominant nonsyndromic hearing loss 4A


polycystic kidney disease 3 with or without polycystic liver disease


proximal myopathy with focal depletion of mitochondria


progressive bifocal chorioretinal atrophy


autosomal recessive nonsyndromic hearing loss 4


frontotemporal dementia and/or amyotrophic lateral sclerosis 7


T-B+ severe combined immunodeficiency due to JAK3 deficiency


low phospholipid associated cholelithiasis


hereditary hyperferritinemia with congenital cataracts


obesity due to prohormone convertase I deficiency


diffuse nonepidermolytic palmoplantar keratoderma


autosomal dominant nonsyndromic hearing loss 6


autosomal recessive nonsyndromic hearing loss 6


autosomal recessive nonsyndromic hearing loss 7


cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies


infundibulopelvic stenosis-multicystic kidney syndrome


hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome


autosomal dominant nonsyndromic hearing loss 5


epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive


portal vein, cavernous transformation of


autosomal recessive nonsyndromic hearing loss 9


autosomal recessive nonsyndromic hearing loss 8


Mayer-Rokitansky-Küster-Hauser syndrome type 2


ALG3-congenital disorder of glycosylation


fallot complex-intellectual disability-growth delay syndrome


neuropathy, hereditary motor and sensory, type 6A


lissencephaly type 3-metacarpal bone dysplasia syndrome


diaphragmatic defect-limb deficiency-skull defect syndrome


cleft lip/palate-intestinal malrotation-cardiopathy syndrome


skeletal dysplasia-epilepsy-short stature syndrome


alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome


autosomal recessive congenital ichthyosis 4A


diabetes mellitus, noninsulin-dependent, 1


autosomal recessive limb-girdle muscular dystrophy type 2F


autosomal dominant nonsyndromic hearing loss 10


autosomal dominant nonsyndromic hearing loss 11


porencephaly-cerebellar hypoplasia-internal malformations syndrome


renal dysplasia, cystic, susceptibility to


atrophia maculosa varioliformis cutis, familial


ectodermal dysplasia with natal teeth, Turnpenny type


deafness-epiphyseal dysplasia-short stature syndrome


microcephaly-cardiac defect-lung malsegmentation syndrome


lethal short-limb skeletal dysplasia, Al Gazali type


amelia cleft lip palate hydrocephalus iris coloboma


intellectual disability-sparse hair-brachydactyly syndrome


autosomal dominant nonsyndromic hearing loss 9


hidrotic ectodermal dysplasia, Christianson-Fourie type


autosomal recessive nonsyndromic hearing loss 12


cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction


diabetes mellitus, transient neonatal, 1


autosomal dominant nonsyndromic hearing loss 7


anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis


rhizomelic dysplasia, Patterson-Lowry type


progressive deafness with stapes fixation


dislocation of the hip-dysmorphism syndrome


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive


autosomal dominant nonsyndromic hearing loss 12


autosomal dominant nonsyndromic hearing loss 3A


alacrima, congenital, autosomal recessive


facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome


congenital hypotrichosis with juvenile macular dystrophy


multiple epiphyseal dysplasia, Lowry type


lung agenesis-heart defect-thumb anomalies syndrome


sebaceous gland hyperplasia, familial presenile


T-cell immunodeficiency, congenital alopecia, and nail dystrophy


deaf blind hypopigmentation syndrome, Yemenite type


superior transverse scapular ligament, calcification of, familial


systemic lupus erythematosus, susceptibility to, 1


Ehlers-Danlos syndrome, musculocontractural type


colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome


acroosteolysis-keloid-like lesions-premature aging syndrome


hyperinsulinemic hypoglycemia, familial, 2


progressive familial intrahepatic cholestasis type 2


autoimmune lymphoproliferative syndrome type 1


autosomal dominant nonsyndromic hearing loss 13


autosomal recessive nonsyndromic hearing loss 15


malignant hyperthermia, susceptibility to, 5


glomerulopathy with fibronectin deposits 2


lymphedema-atrial septal defects-facial changes syndrome


keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome


autosomal recessive limb-girdle muscular dystrophy type 2G


hyperzincemia with functional zinc depletion


infantile convulsions and choreoathetosis


leishmaniasis, tegumentary, susceptibility to


fibrosis of extraocular muscles, congenital, 2


arrhythmogenic right ventricular dysplasia 3


arrhythmogenic right ventricular dysplasia 4


autosomal recessive nonsyndromic hearing loss 18A


spondyloepimetaphyseal dysplasia, Missouri type


nephropathy, progressive tubulointerstitial, with cholestatic liver disease


Pierre Robin sequence with pectus excavatum and rib and scapular anomalies


medium chain 3-ketoacyl-Coa thiolase deficiency


ventriculomegaly with defects of the radius and kidney


progressive familial intrahepatic cholestasis type 3


autosomal recessive congenital ichthyosis 11


severe combined immunodeficiency due to DCLRE1C deficiency


autosomal dominant nonsyndromic hearing loss 15


short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome


ossification of the posterior longitudinal ligament of the spine


pelvic dysplasia-arthrogryposis of lower limbs syndrome


hyperinsulinism due to glucokinase deficiency


megaconial type congenital muscular dystrophy


spondyloepimetaphyseal dysplasia, Shohat type


MPI-congenital disorder of glycosylation


spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability


camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye


renal tubular acidosis, distal, 3, with or without sensorineural hearing loss


acromesomelic dysplasia 1, Maroteaux type


autosomal recessive nonsyndromic hearing loss 17


autosomal recessive nonsyndromic hearing loss 13


ALG6-congenital disorder of glycosylation 1C


autosomal dominant nocturnal frontal lobe epilepsy 2


arhinia, choanal atresia, and microphthalmia


Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin


spondyloepimetaphyseal dysplasia with multiple dislocations


familial hemophagocytic lymphohistiocytosis 4


familial hemophagocytic lymphohistiocytosis 2


SLC35A1-congenital disorder of glycosylation


autosomal dominant nonsyndromic hearing loss 17


autosomal recessive nonsyndromic hearing loss 21


autosomal recessive nonsyndromic hearing loss 14


myopathy, myofibrillar, 9, with early respiratory failure


autosomal recessive nonsyndromic hearing loss 16


blepharophimosis - intellectual disability syndrome, SBBYS type


hypercholesterolemia, autosomal dominant, 3


ventricular fibrillation, paroxysmal familial, type 1


autoimmune lymphoproliferative syndrome type 2A


intervertebral disk degenerative disorder


microvascular complications of diabetes, susceptibility to, 1


autosomal dominant nonsyndromic hearing loss 16


megalencephalic leukoencephalopathy with subcortical cysts


autosomal recessive nonsyndromic hearing loss 20


autosomal dominant cerebellar ataxia, deafness and narcolepsy


dystrophic epidermolysis bullosa pruriginosa


congenital cataracts-facial dysmorphism-neuropathy syndrome


facial paresis, hereditary congenital, 2


familial encephalopathy with neuroserpin inclusion bodies


generalized epilepsy with febrile seizures plus, type 1


short stature due to partial GHR deficiency


mitochondrial complex V (ATP synthase) deficiency, nuclear type 1


autosomal recessive proximal renal tubular acidosis


autosomal recessive limb-girdle muscular dystrophy type 2E


ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3


blepharophimosis - intellectual disability syndrome, Verloes type


microcephaly 2, primary, autosomal recessive, with or without cortical malformations


autosomal recessive distal spinal muscular atrophy 1


microcephaly 4, primary, autosomal recessive


PPARG-related familial partial lipodystrophy


cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1


patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome


arrhythmogenic right ventricular dysplasia 5


arrhythmogenic right ventricular dysplasia 6


generalized epilepsy with febrile seizures plus, type 2


hereditary motor and sensory neuropathy, Okinawa type


epidermolysis bullosa simplex due to plakophilin deficiency


progressive familial heart block type IB


autosomal dominant nonsyndromic hearing loss 20


catecholaminergic polymorphic ventricular tachycardia 1


autosomal recessive congenital ichthyosis 5


microcephaly 3, primary, autosomal recessive


epilepsy, idiopathic generalized, susceptibility to, 7


mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis


hereditary North American Indian childhood cirrhosis


wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia


Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology


autosomal dominant nonsyndromic hearing loss 23


autosomal dominant nocturnal frontal lobe epilepsy 3


cerebral palsy, ataxic, autosomal recessive


autosomal recessive nonsyndromic hearing loss 26


radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome


basal cell carcinoma, susceptibility to, 1


benign recurrent intrahepatic cholestasis type 2


abdominal obesity-metabolic syndrome quantitative trait locus 2


autosomal dominant nonsyndromic hearing loss 25


deafness, autosomal dominant 39, with dentinogenesis imperfecta 1


familial papillary thyroid carcinoma with renal papillary neoplasia


arrhythmogenic cardiomyopathy with wooly hair and keratoderma


multiple mitochondrial dysfunctions syndrome 1


cerebral amyloid angiopathy, APP-related


autosomal recessive distal spinal muscular atrophy 2


neonatal intrahepatic cholestasis due to citrin deficiency


autosomal recessive nonsyndromic hearing loss 27


generalized basaloid follicular hamartoma syndrome


autosomal recessive early-onset Parkinson disease 6


metaphyseal dysplasia, Braun-Tinschert type


nephrolithiasis, uric acid, susceptibility to


autosomal dominant nonsyndromic hearing loss 18


MOGS-congenital disorder of glycosylation


Charcot-Marie-Tooth disease axonal type 2C


Diamond-Blackfan anemia 15 with mandibulofacial dysostosis


atrioventricular septal defect, susceptibility to, 2


intellectual disability, short stature, facial anomalies, and joint dislocations


intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism


autosomal dominant nonsyndromic hearing loss 24


autosomal recessive early-onset Parkinson disease 7


autosomal dominant nonsyndromic hearing loss 22


maturity-onset diabetes of the young type 4


Ehlers-Danlos syndrome due to tenascin-X deficiency


persistent polyclonal B-cell lymphocytosis


autosomal dominant nonsyndromic hearing loss 30


Charcot-Marie-Tooth disease dominant intermediate B


Charcot-Marie-Tooth Disease, axonal, type 2GG


autosomal recessive congenital ichthyosis 3


vitiligo-associated multiple autoimmune disease susceptibility 1


Charcot-Marie-Tooth disease axonal type 2F


muscular dystrophy-dystroglycanopathy type B5


glaucoma, normal tension, susceptibility to


spongiform encephalopathy with neuropsychiatric features


autosomal dominant nonsyndromic hearing loss 36


partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome


distal myopathy with anterior tibial onset


Cardioneuromyopathy with hyaline masses and nemaline rods


primary intraosseous venous malformation


symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch


autosomal dominant nonsyndromic hearing loss 21


autosomal recessive nonsyndromic hearing loss 22


46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome


autosomal recessive nonsyndromic hearing loss 31


neuronopathy, distal hereditary motor, autosomal recessive 3


B4GALT1-congenital disorder of glycosylation


autosomal recessive nonsyndromic hearing loss 30


multiple epiphyseal dysplasia, Al-Gazali type


ALG12-congenital disorder of glycosylation


autosomal recessive limb-girdle muscular dystrophy type 2I


cloverleaf skull-multiple congenital anomalies syndrome


infantile-onset ascending hereditary spastic paralysis


autosomal recessive nonsyndromic hearing loss 33


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1


autoimmune lymphoproliferative syndrome type 2B


asthma-related traits, susceptibility to, 1


horizontal gaze palsy with progressive scoliosis


autosomal recessive cerebellar ataxia-saccadic intrusion syndrome


coronary heart disease, susceptibility to, 1


isolated focal cortical dysplasia type II


intellectual disability, autosomal recessive 2


arrhythmogenic right ventricular dysplasia 8


autosomal dominant nonsyndromic hearing loss 44


sensory ataxic neuropathy, dysarthria, and ophthalmoparesis


vitamin K-dependent clotting factors, combined deficiency of, type 2


GRN-related frontotemporal lobar degeneration with Tdp43 inclusions


migraine with or without aura, susceptibility to, 3


migraine without aura, susceptibility to, 4


migraine with or without aura, susceptibility to, 5


migraine with or without aura, susceptibility to, 6


spastic paraplegia, ataxia, and intellectual disability


lethal congenital contracture syndrome 2


neonatal ichthyosis-sclerosing cholangitis syndrome


epilepsy, idiopathic generalized, susceptibility to, 11


neuronopathy, distal hereditary motor, type 7B


skin fragility-woolly hair-palmoplantar keratoderma syndrome


tubulointerstitial nephritis and uveitis syndrome


cataract, congenital, with mental impairment and dentate gyrus atrophy


epilepsy, idiopathic generalized, susceptibility to, 9


Parkinson disease 11, autosomal dominant, susceptibility to


leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism


Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive


Noonan syndrome-like disorder with loose anagen hair


Charcot-Marie-Tooth disease axonal type 2H


Charcot-Marie-Tooth disease dominant intermediate D


autosomal recessive nonsyndromic hearing loss 37


Charcot-Marie-Tooth disease axonal type 2K


focal segmental glomerulosclerosis 3, susceptibility to


autoimmune disease, susceptibility to, 1


autosomal dominant nonsyndromic hearing loss 48


nonimmune chronic idiopathic neutropenia of adults


congenital merosin-deficient muscular dystrophy 1A


ALG2-congenital disorder of glycosylation


microphthalmia with brain and digit anomalies


Spondyloenchondrodysplasia with immune dysregulation


infantile-onset autosomal recessive nonprogressive cerebellar ataxia


familial acute necrotizing encephalopathy


hereditary sensory and autonomic neuropathy type 1B


DPAGT1-congenital disorder of glycosylation


periventricular heterotopia with microcephaly, autosomal recessive


autosomal recessive limb-girdle muscular dystrophy type 2D


ALG8-congenital disorder of glycosylation


rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome


paternal uniparental disomy of chromosome 14


adult-onset foveomacular vitelliform dystrophy


autoimmune thyroid disease, susceptibility to, 3


autosomal recessive nonsyndromic hearing loss 38


autosomal dominant nonsyndromic hearing loss 41


chronic myelogenous leukemia, BCR-ABL1 positive


autosomal dominant slowed nerve conduction velocity


mandibulofacial dysostosis with ptosis, autosomal dominant


autosomal recessive nonsyndromic hearing loss 40


autosomal recessive nonsyndromic hearing loss 39


coronary artery disease, autosomal dominant, 1


Charcot-Marie-Tooth disease dominant intermediate C


Charcot-Marie-Tooth disease recessive intermediate A


nystagmus 3, congenital, autosomal dominant


capillary malformation-arteriovenous malformation syndrome


spondyloepiphyseal dysplasia, Kimberley type


chromosome 22q11.2 microduplication syndrome


autosomal dominant nonsyndromic hearing loss 49


microcephaly 6, primary, autosomal recessive


autosomal dominant nonsyndromic hearing loss 43


autosomal dominant limb-girdle muscular dystrophy type 1F


intellectual disability, autosomal recessive 3


myocardial infarction, susceptibility to


ALG1-congenital disorder of glycosylation


Larsen-like osseous dysplasia-short stature syndrome


autosomal recessive nonsyndromic hearing loss 35


ulnar/fibula ray defect-brachydactyly syndrome


choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome


asthma-related traits, susceptibility to, 2


congenital generalized lipodystrophy type 1


familial partial lipodystrophy, Kobberling type


mandibuloacral dysplasia with type B lipodystrophy


midface hypoplasia, obesity, developmental delay, and neonatal hypotonia


neuronopathy, distal hereditary motor, type 2B


autosomal dominant nonsyndromic hearing loss 28


aromatic L-amino acid decarboxylase deficiency


autosomal dominant nonsyndromic hearing loss 31


autosomal dominant nonsyndromic hearing loss 47


autosomal recessive nonsyndromic hearing loss 32


hereditary sensory and autonomic neuropathy type 5


intellectual disability-brachydactyly-Pierre Robin syndrome


Charcot-Marie-Tooth disease axonal type 2L


spondylocostal dysostosis 2, autosomal recessive


microcephaly 5, primary, autosomal recessive


spondyloepimetaphyseal dysplasia, matrilin-3 type


growth delay due to insulin-like growth factor type 1 deficiency


epilepsy, idiopathic generalized, susceptibility to, 3


ALG9-congenital disorder of glycosylation


COG7-congenital disorder of glycosylation


pyruvate dehydrogenase phosphatase deficiency


congenital disorder of glycosylation type 1E


sudden infant death-dysgenesis of the testes syndrome


familial avascular necrosis of femoral head


autosomal recessive limb-girdle muscular dystrophy type 2J


carnitine palmitoyl transferase II deficiency, neonatal form


Carney complex - trismus - pseudocamptodactyly syndrome


muscular dystrophy-dystroglycanopathy type B6


hereditary cryohydrocytosis with reduced stomatin


familial hemophagocytic lymphohistiocytosis 3


myasthenic syndrome, congenital, 1B, fast-channel


spondylometaphyseal dysplasia-cone-rod dystrophy syndrome


susceptibility to respiratory infections associated with CD8alpha chain mutation


autosomal recessive nonsyndromic hearing loss 36


mitochondrial trifunctional protein deficiency


long chain 3-hydroxyacyl-CoA dehydrogenase deficiency


posterior column ataxia-retinitis pigmentosa syndrome


arrhythmogenic right ventricular dysplasia 9


epidermolysis bullosa simplex 7, with nephropathy and deafness


hepatoencephalopathy due to combined oxidative phosphorylation defect type 1


permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome


autosomal dominant limb-girdle muscular dystrophy type 1G


autosomal dominant auditory neuropathy 1


posterior polymorphous corneal dystrophy 2


posterior polymorphous corneal dystrophy 3


familial hyperthyroidism due to mutations in TSH receptor


autosomal dominant striatal neurodegeneration type 1


spondyloepiphyseal dysplasia with metatarsal shortening


congenital reticular ichthyosiform erythroderma


MPDU1-congenital disorder of glycosylation


foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome


dandy-walker malformation with occipital cephalocele, autosomal dominant


spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type


alpha-N-acetylgalactosaminidase deficiency type 1


autosomal recessive spinocerebellar ataxia 7


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2


congenital myopathy 4B, autosomal recessive


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3


B-cell immunodeficiency, distal limb anomalies, and urogenital malformations


developmental and epileptic encephalopathy, 3


autosomal recessive limb-girdle muscular dystrophy type 2K


multiple epiphyseal dysplasia, with severe proximal femoral dysplasia


epidermolysis bullosa simplex 2E, with migratory circinate erythema


fibrosis of extraocular muscles, congenital, 3c


mesoaxial synostotic syndactyly with phalangeal reduction


autosomal recessive nonsyndromic hearing loss 48


generalized epilepsy-paroxysmal dyskinesia syndrome


myopathy, autophagic vacuolar, infantile-onset


Stickler syndrome, type I, nonsyndromic ocular


autosomal recessive nonsyndromic hearing loss 23


mitochondrial DNA depletion syndrome, myopathic form


familial scaphocephaly syndrome, McGillivray type


fibrosis of extraocular muscles, congenital, with synergistic divergence


spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness


lethal acantholytic epidermolysis bullosa


autosomal recessive nonsyndromic hearing loss 42


autosomal recessive nonsyndromic hearing loss 46


short stature and Facioauriculothoracic malformations


autosomal recessive nonsyndromic hearing loss 53


obesity due to pro-opiomelanocortin deficiency


generalized epilepsy with febrile seizures plus, type 4


hamartoma, Precalcaneal congenital fibrolipomatous


maturity-onset diabetes of the young type 8


spondylocostal dysostosis 3, autosomal recessive


autosomal recessive nonsyndromic hearing loss 28


combined immunodeficiency due to partial RAG1 deficiency


systemic lupus erythematosus, susceptibility to, 6


autosomal recessive nonsyndromic hearing loss 51


ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features


brachyphalangy, polydactyly, and tibial aplasia/hypoplasia


autosomal recessive nonsyndromic hearing loss 47


autosomal recessive nonsyndromic hearing loss 55


autosomal dominant nonsyndromic hearing loss 53


hyperinsulinemic hypoglycemia, familial, 4


primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency


osteosclerosis-ichthyosis-premature ovarian failure syndrome


neuronal ceroid lipofuscinosis 8 northern epilepsy variant


congenital brain dysgenesis due to glutamine synthetase deficiency


brachydactyly, coloboma, and anterior segment dysgenesis


complex cortical dysplasia with other brain malformations 7


cortical dysplasia-focal epilepsy syndrome


microphthalmia, isolated, with coloboma 3


Finnish upper limb-onset distal myopathy


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4


autosomal recessive nonsyndromic hearing loss 62


autosomal recessive nonsyndromic hearing loss 49


autosomal recessive nonsyndromic hearing loss 44


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2


arrhythmogenic right ventricular dysplasia 10


neonatal diabetes mellitus with congenital hypothyroidism


Alagille syndrome due to a NOTCH2 point mutation


migraine with or without aura, susceptibility to, 10


migraine with or without aura, susceptibility to, 11


autosomal recessive nonsyndromic hearing loss 66


autosomal recessive nonsyndromic hearing loss 59


seborrhea-like dermatitis with psoriasiform elements


autosomal recessive nonsyndromic hearing loss 65


autosomal recessive nonsyndromic hearing loss 67


autosomal recessive frontotemporal pachygyria


hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency


Parkinson disease 13, autosomal dominant, susceptibility to


right pulmonary artery, anomalous origin of, familial


autosomal dominant nocturnal frontal lobe epilepsy 4


cone dystrophy with supernormal rod response


diabetes mellitus, transient neonatal, 2


autosomal recessive nonsyndromic hearing loss 68


preauricular tag, isolated, autosomal dominant, 1


alopecia-intellectual disability syndrome 2


cone-rod synaptic disorder, congenital nonprogressive


spondyloepimetaphyseal dysplasia, Genevieve type


congenital stationary night blindness autosomal dominant 3


congenital stationary night blindness autosomal dominant 1


normophosphatemic familial tumoral calcinosis


pigmented nodular adrenocortical disease, primary, 2


arrhythmogenic right ventricular dysplasia 11


pigmented nodular adrenocortical disease, primary, 1


combined oxidative phosphorylation defect type 2


preterm premature rupture of the membranes


fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3


maturity-onset diabetes of the young type 7


Gaucher disease due to saposin C deficiency


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion


diabetes mellitus, transient neonatal, 3


corticosterone methyloxidase type 2 deficiency


hypogonadotropic hypogonadism 4 with or without anosmia


palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome


hereditary hemorrhagic telangiectasia type 4


combined oxidative phosphorylation defect type 4


deafness with labyrinthine aplasia, microtia, and microdontia


DK1-congenital disorder of glycosylation


primary immunodeficiency syndrome due to p14 deficiency


body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency


autoimmune pulmonary alveolar proteinosis


hereditary pulmonary alveolar proteinosis


interstitial lung disease due to ABCA3 deficiency


systemic lupus erythematosus, susceptibility to, 9


coronary heart disease, susceptibility to, 7


coronary artery disease, autosomal dominant 2


autosomal recessive nonsyndromic hearing loss 24


asthma-related traits, susceptibility to, 5


neuronopathy, distal hereditary motor, autosomal recessive 4


polyhydramnios, megalencephaly, and symptomatic epilepsy


intellectual disability, autosomal recessive 12


intellectual disability, autosomal recessive 5


intellectual disability, autosomal recessive 6


intellectual disability, autosomal recessive 7


intellectual disability, autosomal recessive 9


intellectual disability, autosomal recessive 10


intellectual disability, autosomal recessive 11


leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome


intellectual disability, autosomal recessive 4


epilepsy, idiopathic generalized, susceptibility to, 13


craniofacial dysplasia - osteopenia syndrome


COG8-congenital disorder of glycosylation


COG1-congenital disorder of glycosylation


autosomal recessive limb-girdle muscular dystrophy type 2L


myoclonic epilepsy, juvenile, susceptibility to, 4


lethal congenital contracture syndrome 3


autosomal recessive nonsyndromic hearing loss 63


arrhythmogenic right ventricular dysplasia 12


renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies


glycogen storage disease due to muscle and heart glycogen synthase deficiency


autosomal recessive limb-girdle muscular dystrophy type 2M


renal tubular acidosis, distal, 4, with hemolytic anemia


microphthalmia, isolated, with coloboma 5


early-onset myopathy with fatal cardiomyopathy


migraine with or without aura, susceptibility to, 12


spondyloepiphyseal dysplasia, Cantu type


hypotonia with lactic acidemia and hyperammonemia


Krabbe disease due to saposin A deficiency


familial cold autoinflammatory syndrome 2


autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome


tremor, hereditary essential, and idiopathic normal pressure hydrocephalus


microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome


chromosome 22q11.2 deletion syndrome, distal


glycogen storage disease due to aldolase A deficiency


lethal arthrogryposis-anterior horn cell disease syndrome


lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome


camptodactyly syndrome, Guadalajara type 3


chromosome 3q29 microduplication syndrome


catecholaminergic polymorphic ventricular tachycardia 2


epilepsy, childhood absence, susceptibility to, 6


asthma-related traits, susceptibility to, 7


chromosome 15q13.3 microdeletion syndrome


RFT1-congenital disorder of glycosylation


autosomal recessive ataxia due to ubiquinone deficiency


mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria


hypophosphatemic rickets and hyperparathyroidism


deafness, unilateral, with delayed endolymphatic hydrops


diarrhea-vomiting due to trehalase deficiency


ectodermal dysplasia and immunodeficiency 2


epidermolysis bullosa simplex 5C, with pyloric atresia


developmental and epileptic encephalopathy, 4


diastasis recti and weakness of the linea alba


maturity-onset diabetes of the young type 9


Crouzon syndrome-acanthosis nigricans syndrome


systemic lupus erythematosus, susceptibility to, 10


systemic lupus erythematosus, susceptibility to, 11


pyogenic bacterial infections due to MyD88 deficiency


epilepsy, childhood absence, susceptibility to, 5


autosomal recessive congenital ichthyosis 6


bilateral microtia-deafness-cleft palate syndrome


thrombophilia due to protein C deficiency, autosomal recessive


thrombophilia due to protein S deficiency, autosomal dominant


intellectual disability, autosomal dominant 22


thrombophilia, familial, due to decreased release of tissue plasminogen activator


Ehlers-Danlos syndrome, spondylocheirodysplastic type


porokeratosis 6, disseminated superficial actinic type


hypogonadotropic hypogonadism 5 with or without anosmia


SRD5A3-congenital disorder of glycosylation


bone fragility with contractures, arterial rupture, and deafness


autosomal dominant nonsyndromic hearing loss 27


autosomal recessive nonsyndromic hearing loss 45


blindness - scoliosis - arachnodactyly syndrome


skeletal defects, genital hypoplasia, and intellectual disability


congenital generalized lipodystrophy type 3


amelogenesis imperfecta hypomaturation type 2A2


focal segmental glomerulosclerosis 4, susceptibility to


chromosome 17P13.3, telomeric, duplication syndrome


intellectual disability, autosomal dominant 3


intellectual disability, autosomal dominant 4


intellectual disability, autosomal dominant 5


microvascular complications of diabetes, susceptibility to, 2


microvascular complications of diabetes, susceptibility to, 3


microvascular complications of diabetes, susceptibility to, 4


hemolytic anemia due to adenylate kinase deficiency


microvascular complications of diabetes, susceptibility to, 5


microvascular complications of diabetes, susceptibility to, 6


autosomal dominant nonsyndromic hearing loss 59


autosomal dominant nonsyndromic hearing loss 3B


autosomal dominant nonsyndromic hearing loss 2B


autosomal recessive nonsyndromic hearing loss 1B


bilateral parasagittal parieto-occipital polymicrogyria


agammaglobulinemia 6, autosomal recessive


hypogonadotropic hypogonadism 6 with or without anosmia


microcephaly 7, primary, autosomal recessive


dopa-responsive dystonia due to sepiapterin reductase deficiency


cholestasis-pigmentary retinopathy-cleft palate syndrome


porphyria due to ALA dehydratase deficiency


isolated growth hormone deficiency type IB


combined immunodeficiency due to ORAI1 deficiency


combined immunodeficiency due to STIM1 deficiency


autosomal recessive nonsyndromic hearing loss 71


spondyloepimetaphyseal dysplasia, aggrecan type


keratosis follicularis spinulosa decalvans, autosomal dominant


sterile multifocal osteomyelitis with periostitis and pustulosis


chronic thromboembolic pulmonary hypertension


adenosine monophosphate deaminase deficiency


epilepsy, idiopathic generalized, susceptibility to, 8


cerebral palsy, spastic quadriplegic, 2

Autosomal dominant inheritance with maternal imprinting


atypical hemolytic-uremic syndrome with MCP/CD46 anomaly


atypical hemolytic-uremic syndrome with I factor anomaly


atypical hemolytic-uremic syndrome with B factor anomaly


atypical hemolytic-uremic syndrome with C3 anomaly


atypical hemolytic-uremic syndrome with thrombomodulin anomaly


glycogen storage disease due to muscle beta-enolase deficiency


glycogen storage disease due to lactate dehydrogenase M-subunit deficiency


DPM3-congenital disorder of glycosylation


lethal polymalformative syndrome, Boissel type


microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type


developmental and epileptic encephalopathy, 39


cystic leukoencephalopathy without megalencephaly


autosomal recessive Parkinson disease 14


ventricular fibrillation, paroxysmal familial, 2


Emery-Dreifuss muscular dystrophy 4, autosomal dominant


Emery-Dreifuss muscular dystrophy 5, autosomal dominant


palmoplantar keratoderma, nonepidermolytic, focal 1


attention deficit-hyperactivity disorder, susceptibility to, 7


bronchiectasis with or without elevated sweat chloride 2


combined pituitary hormone deficiencies, genetic form


epilepsy, idiopathic generalized, susceptibility to, 10


neurodegenerative syndrome due to cerebral folate transport deficiency


acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins


bronchiectasis with or without elevated sweat chloride 3


autosomal dominant nonsyndromic hearing loss 50


congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5


Nijmegen breakage syndrome-like disorder


autosomal recessive nonsyndromic hearing loss 77


familial juvenile hyperuricemic nephropathy type 2


familial hemophagocytic lymphohistiocytosis 5


hereditary hypotrichosis with recurrent skin vesicles


neutropenia, severe congenital, 2, autosomal dominant


neuropathy, hereditary sensory and autonomic, type 2B


hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency


hydrops fetalis, nonimmune, with gracile bones and dysmorphic features


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3


muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2


autosomal recessive limb-girdle muscular dystrophy type 2O


autosomal recessive limb-girdle muscular dystrophy type 2N


cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies


purine nucleoside phosphorylase deficiency


polymicrogyria with optic nerve hypoplasia


intellectual disability, autosomal recessive 13


congenital muscular dystrophy due to integrin alpha-7 deficiency


congenital muscular dystrophy due to LMNA mutation


amelogenesis imperfecta hypomaturation type 2A3


congenital diarrhea 5 with tufting enteropathy


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3


thyrotoxic periodic paralysis, susceptibility to, 2


cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome


autosomal recessive nonsyndromic hearing loss 25


Charcot-Marie-Tooth disease axonal type 2N


autosomal recessive nonsyndromic hearing loss 79


hypophosphatemic rickets, autosomal recessive, 2


autosomal recessive spondylometaphyseal dysplasia, Megarbane type


congenital generalized lipodystrophy type 4


combined immunodeficiency with faciooculoskeletal anomalies


congenital plasminogen activator inhibitor type 1 deficiency


spondyloepimetaphyseal dysplasia, Handigodu type


susceptibility to mononeuropathy of the median nerve, mild


chromosome 17q23.1-q23.2 deletion syndrome


maturity-onset diabetes of the young type 10


maturity-onset diabetes of the young type 11


neuronopathy, distal hereditary motor, type 2C


syndromic multisystem autoimmune disease due to ITCH deficiency


fatty liver disease, nonalcoholic, susceptibility to, 2


autosomal recessive nonsyndromic hearing loss 84A


autosomal recessive nonsyndromic hearing loss 85


breast-ovarian cancer, familial, susceptibility to, 3


microcephaly, seizures, and developmental delay


arthrogryposis, renal dysfunction, and cholestasis 2


intellectual disability, autosomal dominant 20


frontonasal dysplasia with alopecia and genital anomaly


autosomal recessive nonsyndromic hearing loss 91


frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome


hemolytic anemia due to glucophosphate isomerase deficiency


developmental and epileptic encephalopathy, 5


COG4-congenital disorder of glycosylation


agammaglobulinemia 2, autosomal recessive


agammaglobulinemia 3, autosomal recessive


agammaglobulinemia 4, autosomal recessive


agammaglobulinemia 5, autosomal dominant


myeloid neoplasm associated with FGFR1 rearrangement


autosomal dominant limb-girdle muscular dystrophy type 1H


chromosome 17q21.31 duplication syndrome


autoimmune disease, susceptibility to, 6


autosomal dominant nonsyndromic hearing loss 51


combined oxidative phosphorylation defect type 7


myopathy, lactic acidosis, and sideroblastic anemia 2


congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency


ectodermal dysplasia-cutaneous syndactyly syndrome


chromosome 4Q32.1-q32.2 triplication syndrome


chromosome 16p12.2-p11.2 deletion syndrome


lymphedema-posterior choanal atresia syndrome


COG5-congenital disorder of glycosylation


familial clubfoot due to 17q23.1q23.2 microduplication


factor 5 and Factor VIII, combined deficiency of, 2


neuropathy, hereditary sensory and autonomic, type 1C


Charcot-Marie-Tooth disease recessive intermediate B


Parkinson disease 5, autosomal dominant, susceptibility to


methylmalonic acidemia due to transcobalamin receptor defect


migraine, with or without aura, susceptibility to, 13


ALG11-congenital disorder of glycosylation


infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly


intellectual disability-severe speech delay-mild dysmorphism syndrome


intellectual disability, anterior maxillary protrusion, and strabismus


congenital dyserythropoietic anemia type 4


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome


Rubinstein-Taybi syndrome due to EP300 haploinsufficiency


autosomal recessive nonsyndromic hearing loss 83


spondylocostal dysostosis 4, autosomal recessive


Klippel-Feil syndrome 3, autosomal dominant


microphthalmia, isolated, with coloboma 6


progressive demyelinating neuropathy with bilateral striatal necrosis


Hirschsprung disease, susceptibility to, 3


Hirschsprung disease, susceptibility to, 4


autosomal recessive nonsyndromic hearing loss 74


developmental and epileptic encephalopathy, 7


developmental and epileptic encephalopathy, 11


developmental and epileptic encephalopathy, 12


autosomal recessive limb-girdle muscular dystrophy type 2Q


autosomal recessive spinocerebellar ataxia 10


porencephaly-microcephaly-bilateral congenital cataract syndrome


Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency


hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase


type II complement component 8 deficiency


type I complement component 8 deficiency


immunodeficiency due to MASP-2 deficiency


autosomal recessive limb-girdle muscular dystrophy type 2P


congenital stationary night blindness 1D


multisystemic smooth muscle dysfunction syndrome


constitutional megaloblastic anemia with severe neurologic disease


hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


congenital heart defects, multiple types, 6


immunodeficiency due to ficolin3 deficiency


generalized epilepsy with febrile seizures plus, type 7


autosomal recessive nonsyndromic hearing loss 61


fatal infantile hypertonic myofibrillar myopathy


Hirschsprung disease, cardiac defects, and autonomic dysfunction


PLIN1-related familial partial lipodystrophy


obesity, hyperphagia, and developmental delay


recurrent Neisseria infections due to factor D deficiency


lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis


autosomal recessive nonsyndromic hearing loss 89


megalencephalic leukoencephalopathy with subcortical cysts 2A


megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability


alopecia-intellectual disability syndrome 3


autosomal recessive congenital ichthyosis 8


frontotemporal dementia and/or amyotrophic lateral sclerosis 6


amyloidosis, primary localized cutaneous, 2


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3


intellectual disability, autosomal dominant 6


pituitary hormone deficiency, combined, 6


intellectual disability, autosomal recessive 14


catecholaminergic polymorphic ventricular tachycardia 3


hyperlipidemia due to hepatic triglyceride lipase deficiency


hydroxyacyl glutathione hydrolase deficiency


autosomal recessive nonsyndromic hearing loss 29


hypotonia-failure to thrive-microcephaly syndrome


complex cortical dysplasia with other brain malformations 1


mitochondrial complex V (ATP synthase) deficiency nuclear type 2


mitochondrial complex V (ATP synthase) deficiency nuclear type 3


distal myopathy with posterior leg and anterior hand involvement


immunodeficiency-centromeric instability-facial anomalies syndrome 2


chondrodysplasia with joint dislocations, gPAPP type


multiple congenital anomalies-hypotonia-seizures syndrome 1


sick sinus syndrome 3, susceptibility to


short-rib thoracic dysplasia 7 with or without polydactyly


combined oxidative phosphorylation defect type 8


recurrent infections associated with rare immunoglobulin isotypes deficiency


DYRK1A-related intellectual disability syndrome


methylmalonate semialdehyde dehydrogenase deficiency


pyruvate dehydrogenase E1-beta deficiency


intellectual disability, autosomal dominant 2


hereditary sensory neuropathy-deafness-dementia syndrome


glycogen storage disease due to lactate dehydrogenase H-subunit deficiency


autosomal dominant nonsyndromic hearing loss 64


autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome


monocytopenia with susceptibility to infections


hypertelorism-preauricular sinus-punctual pits-deafness syndrome


pigmented nodular adrenocortical disease, primary, 3


craniofacial anomalies and anterior segment dysgenesis syndrome


LAMB2-related infantile-onset nephrotic syndrome


hyperphosphatasia with intellectual disability syndrome 3


intellectual disability, autosomal recessive 16


autosomal dominant nonsyndromic hearing loss 33


encephalopathy, acute, infection-induced, susceptibility to, 4


hyperuricemic nephropathy, familial juvenile type 3


Charcot-Marie-Tooth disease axonal type 2O


autosomal recessive spinocerebellar ataxia 11


intellectual disability, autosomal recessive 18


Parkinson disease 18, autosomal dominant, susceptibility to


intellectual disability, autosomal dominant 8


intellectual disability, autosomal dominant 10


intellectual disability, autosomal dominant 11


arthrogryposis, Perthes disease, and upward gaze palsy


combined malonic and methylmalonic acidemia


platelet-activating factor acetylhydrolase deficiency


46,XY disorder of sex development due to testicular 17,20-desmolase deficiency


epilepsy, juvenile myoclonic, susceptibility to, 9


breast-ovarian cancer, familial, susceptibility to, 4


myopia, high, with cataract and vitreoretinal degeneration


neurodegeneration with brain iron accumulation 4


multiple mitochondrial dysfunctions syndrome 2


Emery-Dreifuss muscular dystrophy 7, autosomal dominant


cognitive impairment with or without cerebellar ataxia


autosomal recessive spinocerebellar ataxia 12


inflammatory skin and bowel disease, neonatal, 1


intellectual disability, autosomal recessive 31


intellectual disability, autosomal recessive 29


pancreatic triacylglycerol lipase deficiency


intellectual disability, autosomal recessive 27


intellectual disability, autosomal recessive 33


intellectual disability, autosomal recessive 30


intellectual disability, autosomal recessive 19


intellectual disability, autosomal recessive 23


intellectual disability, autosomal recessive 24


intellectual disability, autosomal recessive 25


intellectual disability, autosomal recessive 28


peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome


surfactant metabolism dysfunction, pulmonary, 5


hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism


encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


pregnancy loss, recurrent, susceptibility to, 1


pregnancy loss, recurrent, susceptibility to, 2


pregnancy loss, recurrent, susceptibility to, 3


microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome


autosomal recessive nonsyndromic hearing loss 96


lethal occipital encephalocele-skeletal dysplasia syndrome


autosomal systemic lupus erythematosus type 16


Charcot-Marie-Tooth disease axonal type 2P


cutis laxa, autosomal recessive, type 1B


hypertrophic osteoarthropathy, primary, autosomal recessive, 2


Charcot-Marie-Tooth disease dominant intermediate E


congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome


childhood encephalopathy due to thiamine pyrophosphokinase deficiency


coronary heart disease, susceptibility to, 6


familial cold autoinflammatory syndrome 3


autoimmune lymphoproliferative syndrome type 4


arterial calcification, generalized, of infancy, 2


transient infantile hypertriglyceridemia and hepatosteatosis


microphthalmia, isolated, with coloboma 7


neonatal-onset encephalopathy with rigidity and seizures


intellectual disability, autosomal recessive 34


psychomotor retardation, epilepsy, and craniofacial dysmorphism


DDOST-congenital disorder of glycosylation


thrombophilia due to protein S deficiency, autosomal recessive


encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency


Ehlers-Danlos syndrome, kyphoscoliotic type, 2


developmental and epileptic encephalopathy, 13


leukoencephalopathy with calcifications and cysts


intellectual disability, autosomal dominant 13


congenital stationary night blindness 1E


COG6-congenital disorder of glycosylation


combined oxidative phosphorylation defect type 9


intellectual disability, autosomal dominant 14


intellectual disability, autosomal dominant 15


intellectual disability, autosomal dominant 16


acrodysostosis 2 with or without hormone resistance


autosomal dominant nonsyndromic hearing loss 4B


autosomal recessive nonsyndromic hearing loss 86


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7


familial steroid-resistant nephrotic syndrome with sensorineural deafness


hereditary sensory and autonomic neuropathy type 6


encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome


intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency


microcephaly 8, primary, autosomal recessive


autosomal dominant aplasia and myelodysplasia


hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes


mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency


TMEM165-congenital disorder of glycosylation


3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome


mitochondrial pyruvate carrier deficiency


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1


pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2


facial paresis, hereditary congenital, 3


epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome


hyperphosphatasia with intellectual disability syndrome 2


neuronopathy, distal hereditary motor, type 5B


cerebellar dysfunction with variable cognitive and behavioral abnormalities


short stature-optic atrophy-Pelger-Huët anomaly syndrome


congenital myopathy with internal nuclei and atypical cores


multiple sclerosis, susceptibility to, 5


short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome


nystagmus 7, congenital, autosomal dominant


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8


autosomal recessive spinocerebellar ataxia 13


amelogenesis imperfecta hypomaturation type 2A4


hypogonadotropic hypogonadism 8 with or without anosmia


hypogonadotropic hypogonadism 9 with or without anosmia


hypogonadotropic hypogonadism 10 with or without anosmia


hypogonadotropic hypogonadism 11 with or without anosmia


hypogonadotropic hypogonadism 12 with or without anosmia


hypogonadotropic hypogonadism 13 with or without anosmia


epilepsy, idiopathic generalized, susceptibility to, 12


herpes simplex encephalitis, susceptibility to, 3


herpes simplex encephalitis, susceptibility to, 4


microcephaly 9, primary, autosomal recessive


methylmalonic acidemia with homocystinuria, type cblJ


hypogonadotropic hypogonadism 14 with or without anosmia


peroxisome biogenesis disorder 3A (Zellweger)


autosomal recessive nonsyndromic hearing loss 98


peroxisome biogenesis disorder 4A (Zellweger)


peroxisome biogenesis disorder 5A (Zellweger)


combined immunodeficiency due to STK4 deficiency


peroxisome biogenesis disorder 6A (Zellweger)


peroxisome biogenesis disorder 7A (Zellweger)


metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria


peroxisome biogenesis disorder 8A (Zellweger)


autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


hypogonadotropic hypogonadism 15 with or without anosmia


neuronopathy, distal hereditary motor, autosomal recessive 5


peroxisome biogenesis disorder 10A (Zellweger)


peroxisome biogenesis disorder 11A (Zellweger)


peroxisome biogenesis disorder 12A (Zellweger)


peroxisome biogenesis disorder 13A (Zellweger)


Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency


Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency


Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency


sinoatrial node dysfunction and deafness


hypogonadotropic hypogonadism 16 with or without anosmia


autosomal recessive nonsyndromic hearing loss 93


lethal congenital contracture syndrome 4


catecholaminergic polymorphic ventricular tachycardia 4


PGM1-congenital disorder of glycosylation


combined oxidative phosphorylation defect type 11


branched-chain keto acid dehydrogenase kinase deficiency


leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome


combined oxidative phosphorylation defect type 13


autosomal recessive nonsyndromic hearing loss 70


palmoplantar keratoderma, punctate type ib


ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant


ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive


autosomal recessive nonsyndromic hearing loss 84B


autosomal recessive nonsyndromic hearing loss 18B


combined oxidative phosphorylation defect type 14


combined oxidative phosphorylation defect type 15


congenital heart defects, multiple types, 3


developmental and epileptic encephalopathy, 14


obesity due to congenital leptin deficiency


obesity due to leptin receptor gene deficiency


cholestasis, intrahepatic, of pregnancy, 3


retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome


congenital heart defects, multiple types, 2


autosomal dominant nocturnal frontal lobe epilepsy 5


developmental and epileptic encephalopathy, 15


basal ganglia calcification, idiopathic, 4


autosomal recessive congenital ichthyosis 7


autosomal recessive congenital ichthyosis 9


autosomal recessive congenital ichthyosis 10


Charcot-Marie-Tooth disease axonal type 2Q


epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive


intellectual developmental disorder with autism and macrocephaly


familial episodic pain syndrome with predominantly upper body involvement


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10


congenital muscular dystrophy with intellectual disability and severe epilepsy


lower motor neuron syndrome with late-adult onset


congenital stationary night blindness 1F


microcephalic primordial dwarfism, Alazami type